FRMPD2 FERM and PDZ domain containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FRMPD2provided by HGNC
Official Full Name: FERM and PDZ domain containing 2provided by HGNC
Primary source: HGNC:HGNC:28572
See related: Ensembl:ENSG00000170324 MIM:613323; AllianceGenome:HGNC:28572
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PDZK4; PDZD5C; PDZK5C
Summary: This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2009]
Expression: Biased expression in brain (RPKM 2.2), testis (RPKM 1.3) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q11.22

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (48156559..48274895, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (48998450..49123638, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (49364602..49482739, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
These results provide novel insights into the molecular function of FRMPD2 and into the targeting mechanism of peripheral membrane proteins in polarized epithelial cells.
Title: PDZ-domain-directed basolateral targeting of the peripheral membrane protein FRMPD2 in epithelial cells.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S1869 (e-PCR)
- UniSTS:74096

RH119500 (e-PCR)
- UniSTS:133542

WI-15516 (e-PCR)
- UniSTS:43754

Clone Names

MGC35285, MGC87776, MGC87777, MGC90186, MGC178184, MGC178187

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1-phosphatidylinositol binding	IBA Inferred from Biological aspect of Ancestor more info
enables 1-phosphatidylinositol binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in bicellular tight junction assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in bicellular tight junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in apical part of cell	IBA Inferred from Biological aspect of Ancestor more info
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in bicellular tight junction	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: FERM and PDZ domain-containing protein 2

Names: PDZ domain containing 5C; PDZ domain-containing protein 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001018071.4 → NP_001018081.4 FERM and PDZ domain-containing protein 2 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).

Source sequence(s)

AC013284, AC074325

Consensus CDS

CCDS31195.1

UniProtKB/Swiss-Prot

B7WNW0, B7ZML5, Q2VY07, Q68DX3, Q6GMQ9, Q6ZN38, Q6ZWI2, Q8N5T9

UniProtKB/TrEMBL

A0A1B0GUQ4

Related

ENSP00000363317.3, ENST00000374201.8

Conserved Domains (5) summary

smart00228
Location:947 → 1034

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

smart00295
Location:346 → 550

B41; Band 4.1 homologues

smart00750
Location:15 → 197

KIND; kinase non-catalytic C-lobe domain

cd00992
Location:773 → 857

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd13187
Location:546 → 647

FERM_C_PTPH13; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor 13 (PTPH13)
NM_001042512.3 → NP_001035977.3 FERM and PDZ domain-containing protein 2 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks several 5' exons but contains an alternate 5' exon, and it thus differs in the 5' UTR and 5' coding region, compared to variant 3. The encoded isoform (4) has a distinct and significantly shorter N-terminus, compared to isoform 3.

Source sequence(s)

AC013284

UniProtKB/Swiss-Prot

B2RPG2, Q5RJ30, Q6IN97

UniProtKB/TrEMBL

B7ZML6

Related

ENST00000491130.5

Conserved Domains (1) summary

smart00228
Location:89 → 178

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
NM_001318191.1 → NP_001305120.1 FERM and PDZ domain-containing protein 2 isoform 5 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains an alternate 5' terminal exon and it thus differs in the 5' UTR and 5' coding region, and it also lacks an in-frame exon and uses an alternate in-frame splice site in the 5' coding region, compared to variant 3. The encoded isoform (5) has a distinct N-terminus and is shorter than isoform 3.

Source sequence(s)

AC013284, AK123038, CR749241, DC425871

Consensus CDS

CCDS81460.1

UniProtKB/TrEMBL

A0A1B0GUQ4

Related

ENSP00000307079.3, ENST00000305531.3

Conserved Domains (7) summary

smart00228
Location:922 → 1009

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

smart00295
Location:322 → 525

B41; Band 4.1 homologues

cd00992
Location:748 → 832

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd13187
Location:521 → 622

FERM_C_PTPH13; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor 13 (PTPH13)

pfam00373
Location:414 → 525

FERM_M; FERM central domain

pfam09379
Location:322 → 384

FERM_N; FERM N-terminal domain

cl21453
Location:13 → 173

PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

48156559..48274895 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017015744.2 → XP_016871233.1 FERM and PDZ domain-containing protein 2 isoform X5

UniProtKB/TrEMBL

B2R966

Conserved Domains (1) summary

smart00228
Location:30 → 119

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
XM_047424652.1 → XP_047280608.1 FERM and PDZ domain-containing protein 2 isoform X1

UniProtKB/TrEMBL

B4E1N9
XM_047424653.1 → XP_047280609.1 FERM and PDZ domain-containing protein 2 isoform X2

UniProtKB/TrEMBL

B4E1N9
XM_011539327.3 → XP_011537629.1 FERM and PDZ domain-containing protein 2 isoform X3

See identical proteins and their annotated locations for XP_011537629.1

Conserved Domains (5) summary

smart00295
Location:346 → 550

B41; Band 4.1 homologues

smart00750
Location:15 → 197

KIND; kinase non-catalytic C-lobe domain

cd13187
Location:546 → 647

FERM_C_PTPH13; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor 13 (PTPH13)

pfam00373
Location:438 → 550

FERM_M; FERM central domain

pfam09379
Location:346 → 408

FERM_N; FERM N-terminal domain
XM_047424654.1 → XP_047280610.1 FERM and PDZ domain-containing protein 2 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

48998450..49123638 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054364899.1 → XP_054220874.1 FERM and PDZ domain-containing protein 2 isoform X11

UniProtKB/TrEMBL

A0A1B0GUQ4
XM_054364897.1 → XP_054220872.1 FERM and PDZ domain-containing protein 2 isoform X9

UniProtKB/TrEMBL

A0A1B0GUQ4
XM_054364896.1 → XP_054220871.1 FERM and PDZ domain-containing protein 2 isoform X8

UniProtKB/TrEMBL

A0A1B0GUQ4
XM_054364894.1 → XP_054220869.1 FERM and PDZ domain-containing protein 2 isoform X6

UniProtKB/TrEMBL

A0A1B0GUQ4
XM_054364898.1 → XP_054220873.1 FERM and PDZ domain-containing protein 2 isoform X10

UniProtKB/TrEMBL

A0A1B0GUQ4
XM_054364895.1 → XP_054220870.1 FERM and PDZ domain-containing protein 2 isoform X7

UniProtKB/TrEMBL

A0A1B0GUQ4
XM_054364900.1 → XP_054220875.1 FERM and PDZ domain-containing protein 2 isoform X3
XM_054364901.1 → XP_054220876.1 FERM and PDZ domain-containing protein 2 isoform X12

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001017929.2: Suppressed sequence

Description

NM_001017929.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
NM_152428.4: Suppressed sequence

Description

NM_152428.4: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.